ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826252109
Gene: NOTCH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289807
ClinVar RCV Id:
RCV000368673
RCV000552666
RCV003949938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186930.1:p.Asn319Ser
CA1040640
NM_001200001.2:c.956A>G